Variant report

Variant	rs2181414
Chromosome Location	chr1:47033849-47033850
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47027680..47030218-chr1:47031436..47035434,3	K562	blood:
2	chr1:47033343..47035201-chr1:47067108..47069992,2	K562	blood:

Variant related genes	Relation type
ENSG00000079277	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11211303	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1933934	0.82[CHD][hapmap]
rs3766236	0.83[CEU][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap]
rs3766240	0.83[CEU][hapmap];0.82[CHD][hapmap];0.89[GIH][hapmap];0.86[TSI][hapmap]
rs3766243	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7543083	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1009899	chr1:47007765-47062737	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv534954	chr1:47007765-47062737	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1008246	chr1:47007844-47069845	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv1011892	chr1:47010519-47067492	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs2181414	C1orf84	cis	cerebellum	SCAN
rs2181414	ATPAF1	cis	multi-tissue	Pritchard
rs2181414	TSPAN1	cis	lymphoblastoid	seeQTL
rs2181414	CLDN19	cis	cerebellum	SCAN
rs2181414	STIL	cis	multi-tissue	Pritchard
rs2181414	MKNK1	cis	Whole Blood	GTEx
rs2181414	MKNK1	cis	lung	GTEx
rs2181414	FNTA	trans	cerebellum	SCAN
rs2181414	MKNK1	cis	multi-tissue	Pritchard
rs2181414	FOXE3	cis	multi-tissue	Pritchard
rs2181414	MOB3C	cis	Whole Blood	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46999600-47035000	Weak transcription	Right Atrium	heart
2	chr1:47015800-47041200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:47015800-47043400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:47016000-47037400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:47016800-47034800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:47017600-47039800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:47019800-47043600	Weak transcription	Dnd41	blood
8	chr1:47020800-47047400	Weak transcription	Brain Germinal Matrix	brain
9	chr1:47021000-47057000	Weak transcription	Fetal Brain Male	brain
10	chr1:47021200-47045000	Weak transcription	K562	blood
11	chr1:47021800-47054600	Weak transcription	A549	lung
12	chr1:47022200-47043400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:47022400-47053600	Strong transcription	Thymus	Thymus
14	chr1:47022600-47051400	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:47022600-47051600	Strong transcription	Liver	Liver
16	chr1:47023000-47034600	Strong transcription	Adipose Nuclei	Adipose
17	chr1:47023000-47039200	Strong transcription	Fetal Intestine Small	intestine
18	chr1:47023000-47044200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:47023000-47047400	Strong transcription	Primary T cells from cord blood	blood
20	chr1:47023200-47034200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:47023200-47034200	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr1:47023200-47034400	Strong transcription	Fetal Stomach	stomach
23	chr1:47023200-47034400	Strong transcription	Stomach Smooth Muscle	stomach
24	chr1:47023200-47036400	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:47023200-47036600	Strong transcription	Ovary	ovary
26	chr1:47023200-47036800	Strong transcription	Pancreas	Pancrea
27	chr1:47023200-47044400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr1:47023200-47046600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:47023200-47047200	Strong transcription	Fetal Thymus	thymus
30	chr1:47023200-47051200	Strong transcription	Fetal Muscle Leg	muscle
31	chr1:47023200-47060000	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:47023400-47034200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:47023400-47034400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:47023400-47034400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr1:47023400-47038400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:47023400-47044600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:47023600-47034200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:47023800-47034000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:47023800-47045200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:47023800-47053200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:47024000-47034400	Strong transcription	Spleen	Spleen
42	chr1:47024000-47054800	Weak transcription	HUVEC	blood vessel
43	chr1:47024200-47034000	Strong transcription	Fetal Intestine Large	intestine
44	chr1:47024200-47034400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr1:47024400-47034400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:47024600-47034600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:47024600-47034600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr1:47024600-47034800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:47024600-47042400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:47024800-47034000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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